Pediatric mixed connective tissue disease versus other overlap syndromes: a retrospective multicenter cohort study

Batu, Ezgi Deniz; Günalp, Aybüke; Şahin, Sezgin; Özdel, Semanur; Kızıldağ, Zehra; Kısaarslan, Ayşenur Paç; Bagrul, Ilknur; Cüceoğlu, Müşerref Kasap; Tanatar, Ayşe; Sönmez, Hafize Emine; Sağ, Erdal; Çelikel, Elif; Çağlayan, Şengül; Acar, Banu; Sözeri, Betül; Ayaz, Nuray Aktay; Bilginer, Yelda; Poyrazoğlu, Hakan; Ünsal, Erbil; Kasapçopur, Özgür; Özen, Seza

doi:10.1007/s00296-023-05300-x

Cited by 5 publications

(4 citation statements)

References 19 publications

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“…However, formal conclusions could not be drawn due to the limited size of our study. This is in contrast to larger Turkish or French studies that showed different clinical presentations and outcomes between MCTD and OAS [33,37]. However, our small number of patients did not allow us to conclude on an African ethnic character that makes the phenotypes and evolutionary profile specific.…”

Section: Discussioncontrasting

confidence: 79%

Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies

Felix,

Osei,

Delion

et al. 2024

Pediatr Rheumatol

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Introduction Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. We performed a retrospective, longitudinal and descriptive study of Afro-Caribbean patients from the French West Indies followed for MCTD and OAS to describe their characteristics and outcomes during childhood. Methods Retrospective study from January 2000 to 2023. Listings of patients were obtained from multiple sources: computerized hospital archives and national hospital-based surveillance system, registry of pediatricians and adult specialists in internal medicine and the national registry for rare diseases. MCTD was defined according to Kasukawa’s criteria. OAS was defined as overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and dermatomyositis/autoimmune myositis (DM/AM). Results Sixteen patients were included over a 23-year period (10 MCTD and 6 OAS). The incidence was 0.23 per 100,000 children-years. The mean age at diagnosis was 11.9 years old (2.4–17) with median follow up of 7.9 years (2.1–19.6). SLE phenotype was present in the highest, followed by SSc and DM/AM. Patients had an average of three flares during childhood (1–7). A quarter (25%) had symptomatic pulmonary arterial hypertension (PAH). Ninety-four percent received steroids during follow-up and 88% required a corticosteroid-sparing therapy. Three patients (19%) developed SLE after more than 10y of follow-up. There were no death and no chronic organ failure. Conclusion This is the largest pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care. The clinical evolution did not differ between MCTD and OAS. The main complication was PAH, more frequent in our cohort.

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Section: Discussioncontrasting

confidence: 79%

Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies

Felix,

Osei,

Delion

et al. 2024

Pediatr Rheumatol

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“…and Batu et al. observed the predominant clinical phenotype in jMCTD was SLE, followed by SSc 9,18 . Puffy fingers was a more frequent presentation than RP in the African cohort (Felix et al).…”

Section: Discussionmentioning

confidence: 97%

“…observed the predominant clinical phenotype in jMCTD was SLE, followed by SSc. 9,18 Puffy fingers was a more frequent presentation than RP in the African cohort (Felix et al). Our cohort observed arthritis (90.3%) as the most frequent presenting manifestation, followed by malar rash and RP (70.9%), which was consistent with previous reports of jMCTD (Table 3).…”

Section: Discussionmentioning

confidence: 99%

Exploring clinical features and therapeutic outcomes in Indian children with mixed connective tissue disease: A multicenter study

Guha,

Suri,

Balan

et al. 2024

Int J of Rheum Dis

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IntroductionMixed connective tissue disease (MCTD) is a rare entity in children. There is a paucity of studies on juvenile‐onset MCTD (jMCTD) worldwide especially from Southeast Asia.ObjectivesTo describe clinical and laboratory features of jMCTD diagnosed at pediatric rheumatology centers across India.MethodsA predesigned detailed case proforma in an excel format was prepared and was sent to all the Pediatric Rheumatology centers in India. Eleven centers provided the clinical and laboratory data of their jMCTD patients, which was then compiled and analyzed in detail.ResultsThirty‐one jMCTD patients from 11 centers were included in the study. Our cohort had 27 females and four male patients over 12 months (August 2021 to July 2022). The median age at presentation was 12 years (range 5–18 years) and the median duration of symptoms was 24 months at diagnosis (range 2–96 months). The common features included arthritis (90%), malar rash (70.9%), and Raynaud's phenomenon (70.9%). At a mean follow‐up of 43 months (range 1–168 months), 45% of them were in remission. There were two deaths reported, due to macrophage activation syndrome and sepsis respectively.ConclusionWe present the largest multicenter experience on jMCTD from the Indian subcontinent. The study's findings serve as a crucial stepping stone toward unraveling the complexities of jMCTD and improving patient care and management strategies.

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“…Juvenile onset was defined according to previous MCTD studies, that is, if disease onset occurred before the 18th birthday [16][17][18].…”

Section: Definitionsmentioning

confidence: 99%

Clinical presentation, course, and prognosis of patients with mixed connective tissue disease: A multicenter retrospective cohort

Chevalier,

Thoreau,

Michel

et al. 2023

J Intern Med

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ObjectivesThe objective of this study is to better characterize the features and outcomes of a large population of patients with mixed connective tissue disease (MCTD).MethodsWe performed an observational retrospective multicenter cohort study in France. Patients who fulfilled at least one diagnostic criterion set for MCTD and none of the criteria for other differentiated CTD (dCTD) were included.ResultsThree hundred and thirty patients (88% females, median [interquartile range] age of 35 years [26–45]) were included. The diagnostic criteria of Sharp or Kasukawa were met by 97.3% and 93.3% of patients, respectively. None met other classification criteria without fulfilling Sharp or Kasukawa criteria. After a median follow‐up of 8 (3–14) years, 149 (45.2%) patients achieved remission, 92 (27.9%) had interstitial lung disease, 25 (7.6%) had pulmonary hypertension, and 18 (5.6%) died. Eighty‐five (25.8%) patients progressed to a dCTD, mainly systemic lupus erythematosus (15.8%) or systemic sclerosis (10.6%). Median duration between diagnosis and progression to a dCTD was 5 (2–11) years. The presence at MCTD diagnosis of an abnormal pattern on nailfold capillaroscopy (odds ratio [OR] = 2.44, 95% confidence interval [95%CI] [1.11–5.58]) and parotid swelling (OR = 3.86, 95%CI [1.31–11.4]) were statistically associated with progression to a dCTD. Patients who did not progress to a dCTD were more likely to achieve remission at the last follow‐up (51.8% vs. 25.9%).ConclusionsThis study shows that MCTD is a distinct entity that can be classified using either Kasukawa or Sharp criteria, and that only 25.8% of patients progress to a dCTD during follow‐up.

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Pediatric mixed connective tissue disease versus other overlap syndromes: a retrospective multicenter cohort study

Cited by 5 publications

References 19 publications

Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies

Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies

Exploring clinical features and therapeutic outcomes in Indian children with mixed connective tissue disease: A multicenter study

Clinical presentation, course, and prognosis of patients with mixed connective tissue disease: A multicenter retrospective cohort

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